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American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

March 1990

Volume 35, Issue 3

Pages fmi–fmi, 301–450

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Masthead (page fmi)

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350301

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. DNA polymerase alpha defect in the N syndrome (pages 301–305)

      Kimberly M. Floy, Russell O. Hess and Dr. Lorraine F. Meisner

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350302

  3. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Chromosome abnormality in Kallmann syndrome (pages 306–309)

      Lyle G. Best, Walter A. Wasdahl, Linda M. Larson and Jean Sturlaugson

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350303

    2. Autosomal recessive hydrocephalus with third ventricle obstruction (pages 310–313)

      Dr. C. W. Chow, P. A. McKelvie, R. McD. Anderson, E. M. D. Phelan, G. L. Klug and J. G. Rogers

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350304

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Cytogenetic and molecular study of the Angelman syndrome (pages 314–318)

      Kiyoshi Imaizumi, Fumio Takada, Yoshikazu Kuroki, Kenji Naritomi, Junichi Hamabe and Norio Niikawa

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350305

    2. Prader-Willi syndrome: Current understanding of cause and diagnosis (pages 319–332)

      Dr. Merlin G. Butler

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350306

    3. Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences (pages 333–349)

      R. E. Magenis, S. Toth-Fejel, L. J. Allen, M. Black, M. G. Brown, S. Budden, R. Cohen, J. M. Friedman, D. Kalousek, J. Zonana, D. Lacy, S. Lafranchi, M. Lahr, J. Macfarlane and C. P. S. Williams

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350307

    4. Maternal origin of 15q11–13 deletions in Angelman syndrome suggests a role for genomic imprinting (pages 350–353)

      C. A. Williams, R. T. Zori, J. W. Stone, B. A. Gray, E. S. Cantu and H. Ostrer

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350308

  5. Animal Model

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Segregation distortion in inheritance of progressive rod cone degeneration (prcd) in Miniature Poodle dogs (pages 354–359)

      Dr. Gregory M. Acland, Susan Halloran-Blanton, Joann A. Boughman and Gustavo D. Aguirre

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350309

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Oral–facial–digital syndrome type VI (Váradi syndrome): Further clinical delineation (pages 360–369)

      Maximilian Münke, Donna M. McDonald, Amy Cronister, Janet M. Stewart, Robert J. Gorlin and Elaine H. Zackai

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350310

    2. Mild phenotypic abnormalities in combined del 9p2 and dup 3p2 (pages 370–372)

      K. Game, Dr. J. M. Friedman and D. K. Kalousek

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350311

  7. Animal Model

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Adenine nucleotides, serotonin, and aggregation properties of platelets of blue foxes (Alopex lagopus) with the Chediak-Higashi syndrome (pages 373–378)

      Øystein V. Sjaastad, Anne K. Blom, Helge Stormorken and Norodd Nes

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350312

  8. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Distal deletion of chromosome 1q in an adult (pages 379–382)

      Dr. Fahed Halal, Michel Vekemans, Paige Kaplan and Suzan Zeesman

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350313

  9. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Previously unrecognized congenital progeroid disorder (pages 383–387)

      Elizabeth M. Petty, Renata Laxova and Hans-Rudolf Wiedemann

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350314

    2. A “new” skeletal dysplasia in two unrelated boys (pages 388–393)

      Robert A. Saul and William G. Wilson

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350315

    3. Neural tube defects: Are neurulation and canalization forms causally distinct? (pages 394–396)

      Mary J. Seller

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350316

    4. Apparent Smith–Lemli–Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons (pages 397–405)

      Sharon Parnes, Alasdair G. W. Hunter, Carmencita Jimenez, Blair F. Carpenter and Ian MacDonald

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350317

    5. Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: Apparently new syndrome? (pages 406–414)

      David Chitayat, Barbara C. McGillivray, Ralph Rothstein, Olof Flodmark, Robert W. Priddy, Volker J. Ebelt, David S. Lirenman and Judith G. Hall

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350318

    6. Pathogenesis of the lethal multiple pterygium syndrome (pages 415–421)

      Dr. Philippe Moerman, Jean-Pierre Fryns, Ann Cornelis, Guido Bergmans, Kamiel Vandenberghe and Joseph M. Lauweryns

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350319

  10. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Hypomelanosis of Ito—a nonspecific marker of somatic mosaicism: Report of case with trisomy 18 mosaicism (pages 422–424)

      David Chitayat, J. M. Friedman and Margaret M. Johnston

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350320

  11. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Stepwise oligogenic segregation and linkage analysis illustrated with dopamine-β-hydroxylase activity (pages 425–432)

      Dr. A. F. Wilson, R. C. Elston, T. A. Sellers, J. E. Bailey-Wilson, J. M. Gersting, D. K. Deen, A. J. M. Sorant, L. D. Tran, C. I. Amos and R. M. Siervogel

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350321

    2. Neuroblastoma in a child with Wiedemann–Beckwith syndrome (pages 433–436)

      David Chitayat, J. M. Friedman and James E. Dimmick

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350322

    3. Myelodysplasia and leukemia syndrome with monosomy 7: A genetic perspective (pages 437–441)

      Dr. D. M. Gilchrist, J. M. Friedman, P. C. J. Rogers and S. P. Creighton

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350323

  12. Conference Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Conference report: Psychosocial aspects of genetic counselling: Groningen, The Netherlands, November 9–11, 1988 (page 442)

      B. A. W. Rozendal and H. G. Van Spijker

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350324

  13. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Acrocallosal syndrome (pages 443–446)

      Han J. E. Hendriks, Han G. Brunner, Ton A. M. Haagen and Ben C. J. Hamel

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320350325

  14. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Autistic disorder and additional inv dup(15)(pter→q13) chromosome (page 447)

      Albert Schinzel

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350326

  15. Authors' Reply

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Autistic disorder and additional inv dup(15)(pter→q13) (page 448)

      Agneta Wik Sjöstedt and Jan Wahlström

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350327

  16. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Animal Model
    7. Articles
    8. Animal Model
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Conference Report
    14. Articles
    15. Letter to the Editors
    16. Authors' Reply
    17. Letter to the Editors
    1. Brief historical note on the Brachmann-de Lange syndrome: A patient closely resembling the case described by Brachmann in 1916 (pages 449–450)

      Dr. Peter Meinecke and Hubert Hayek

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320350328

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